GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
GO:003298416 | Esophagus | ESCC | protein-containing complex disassembly | 151/8552 | 224/18723 | 3.45e-11 | 1.15e-09 | 151 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:0051258111 | Esophagus | ESCC | protein polymerization | 183/8552 | 297/18723 | 1.94e-08 | 3.75e-07 | 183 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:0032271111 | Esophagus | ESCC | regulation of protein polymerization | 143/8552 | 233/18723 | 9.21e-07 | 1.17e-05 | 143 |
GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
GO:000815420 | Esophagus | ESCC | actin polymerization or depolymerization | 130/8552 | 218/18723 | 2.19e-05 | 1.88e-04 | 130 |
GO:0030041110 | Esophagus | ESCC | actin filament polymerization | 114/8552 | 191/18723 | 6.46e-05 | 4.92e-04 | 114 |
GO:000806419 | Esophagus | ESCC | regulation of actin polymerization or depolymerization | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:003083218 | Esophagus | ESCC | regulation of actin filament length | 112/8552 | 189/18723 | 1.13e-04 | 7.85e-04 | 112 |
GO:003083320 | Esophagus | ESCC | regulation of actin filament polymerization | 103/8552 | 172/18723 | 1.19e-04 | 8.15e-04 | 103 |
GO:0031333110 | Esophagus | ESCC | negative regulation of protein-containing complex assembly | 86/8552 | 141/18723 | 1.74e-04 | 1.14e-03 | 86 |
GO:00432446 | Esophagus | ESCC | regulation of protein-containing complex disassembly | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
SPTBN2 | SNV | Missense_Mutation | novel | c.5414G>A | p.Arg1805His | p.R1805H | O15020 | protein_coding | deleterious(0.01) | probably_damaging(0.937) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SPTBN2 | SNV | Missense_Mutation | rs765015336 | c.7006N>A | p.Glu2336Lys | p.E2336K | O15020 | protein_coding | tolerated(0.95) | benign(0.001) | TCGA-FI-A2F8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SPTBN2 | SNV | Missense_Mutation | novel | c.4632N>G | p.Ile1544Met | p.I1544M | O15020 | protein_coding | deleterious(0.03) | possibly_damaging(0.688) | TCGA-PG-A917-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | rs139107445 | c.5984G>A | p.Arg1995His | p.R1995H | O15020 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | rs768391963 | c.140G>A | p.Arg47His | p.R47H | O15020 | protein_coding | deleterious(0.01) | probably_damaging(0.973) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | deletion | Frame_Shift_Del | novel | c.3639delA | p.Lys1213AsnfsTer6 | p.K1213Nfs*6 | O15020 | protein_coding | | | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | deletion | Frame_Shift_Del | | c.2771delN | p.Pro924GlnfsTer35 | p.P924Qfs*35 | O15020 | protein_coding | | | TCGA-AP-A1E1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | insertion | Frame_Shift_Ins | novel | c.3639dupA | p.Leu1214ThrfsTer28 | p.L1214Tfs*28 | O15020 | protein_coding | | | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPTBN2 | deletion | Frame_Shift_Del | | c.2771delN | p.Pro924GlnfsTer35 | p.P924Qfs*35 | O15020 | protein_coding | | | TCGA-B5-A11J-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPTBN2 | SNV | Missense_Mutation | rs767535278 | c.4130N>A | p.Arg1377His | p.R1377H | O15020 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-CC-5259-01 | Liver | liver hepatocellular carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |